Canonical Allele Identifier: CA247110

Gene: CLN3

Linked Data

• ClinVar Variation Id: 198450
• ClinVar RCV Id: RCV000179807 ; RCV003647754
• dbSNP Id: rs794727850
• gnomAD v4: 16-28487523-A-G
• MyVariant Identifiers: chr16:g.28498844A>G (hg19) ; chr16:g.28487523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28487523A>G , CM000678.2:g.28487523A>G	GRCh38
NC_000016.9:g.28498844A>G , CM000678.1:g.28498844A>G	GRCh37
NC_000016.8:g.28406345A>G	NCBI36
NG_008654.2:g.9780T>C , LRG_689:g.9780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.321T>C	ENSP00000329171.9:p.Ser107=
ENST00000355477.10:c.393T>C	ENSP00000347660.7:p.Ser131=
ENST00000357857.14:c.231T>C	ENSP00000350523.9:p.Ser77=
ENST00000359984.12:c.393T>C	ENSP00000353073.9:p.Ser131=
ENST00000360019.8:c.321T>C	ENSP00000353116.3:p.Ser107=
ENST00000395653.9:c.151T>C	ENSP00000379014.5:p.Trp51Arg
ENST00000561505.2:c.79T>C	ENSP00000457615.2:p.Trp27Arg
ENST00000561689.6:n.678T>C
ENST00000565316.6:c.393T>C	ENSP00000456117.1:p.Ser131=
ENST00000565778.6:c.241T>C	ENSP00000458015.1:p.Trp81Arg
ENST00000566083.6:n.851T>C
ENST00000566824.6:n.373T>C
ENST00000567495.6:c.393T>C	ENSP00000456013.2:p.Ser131=
ENST00000567963.6:c.231T>C	ENSP00000455387.2:p.Ser77=
ENST00000568076.6:n.520T>C
ENST00000568422.6:c.393T>C	ENSP00000455549.2:p.Ser131=
ENST00000568443.2:c.546T>C	ENSP00000454899.2:p.Ser182=
ENST00000568452.6:n.496T>C
ENST00000568472.6:n.486T>C
ENST00000568497.6:c.-293+1767T>C	ENSP00000456414.2:n.-293+1767T>C
ENST00000568558.6:c.313T>C	ENSP00000455603.2:p.Trp105Arg
ENST00000569430.7:c.393T>C	ENSP00000454229.1:p.Ser131=
ENST00000628023.3:c.222+1767T>C	ENSP00000486178.1:n.222+1767T>C
ENST00000635861.1:c.151T>C	ENSP00000490034.1:p.Trp51Arg
ENST00000635887.1:c.393T>C	ENSP00000490709.1:p.Ser131=
ENST00000635958.1:n.504T>C
ENST00000635973.1:c.144T>C	ENSP00000490363.1:p.Ser48=
ENST00000636017.1:c.313T>C	ENSP00000490538.1:p.Trp105Arg
ENST00000636078.1:n.435T>C
ENST00000636147.2:c.393T>C MANE Select	ENSP00000490105.1:p.Ser131=
ENST00000636172.1:c.313T>C	ENSP00000490505.1:p.Trp105Arg
ENST00000636228.1:c.231T>C	ENSP00000489627.1:p.Ser77=
ENST00000636351.1:n.113T>C
ENST00000636503.1:c.393T>C	ENSP00000489824.1:p.Ser131=
ENST00000636766.1:c.393T>C	ENSP00000489841.1:p.Ser131=
ENST00000636839.1:n.545T>C
ENST00000636853.1:n.469T>C
ENST00000636866.1:c.393T>C	ENSP00000490880.1:p.Ser131=
ENST00000636977.1:n.1461T>C
ENST00000637100.1:c.393T>C	ENSP00000490394.1:p.Ser131=
ENST00000637107.1:c.466T>C	ENSP00000490248.1:p.Trp156Arg
ENST00000637184.1:c.393T>C	ENSP00000489952.1:p.Ser131=
ENST00000637299.1:c.*202T>C	ENSP00000489823.1:n.*202T>C
ENST00000637376.1:c.393T>C	ENSP00000490758.1:p.Ser131=
ENST00000637578.1:c.151T>C	ENSP00000490206.1:p.Trp51Arg
ENST00000637699.1:c.393T>C	ENSP00000490049.1:p.Ser131=
ENST00000637871.1:c.313T>C	ENSP00000490670.1:p.Trp105Arg
ENST00000637985.1:c.*332T>C	ENSP00000490932.1:n.*332T>C
ENST00000333496.13:c.321T>C	ENSP00000329171.9:p.Ser107=
ENST00000355477.9:c.393T>C	ENSP00000347660.6:p.Ser131=
ENST00000357806.11:c.313T>C	ENSP00000350457.7:p.Trp105Arg
ENST00000357857.13:c.231T>C	ENSP00000350523.9:p.Ser77=
ENST00000359984.11:c.231T>C	ENSP00000353073.8:p.Ser77=
ENST00000360019.6:c.393T>C	ENSP00000353116.2:p.Ser131=
ENST00000395653.8:c.93T>C	ENSP00000379014.4:p.Ser31=
ENST00000561505.1:c.93T>C	ENSP00000457615.1:p.Ser31=
ENST00000561689.5:n.234T>C
ENST00000563874.5:n.1747T>C
ENST00000564574.5:n.441T>C
ENST00000565047.1:n.204T>C
ENST00000565140.5:c.393T>C	ENSP00000455342.1:p.Ser131=
ENST00000565316.5:c.393T>C	ENSP00000456117.1:p.Ser131=
ENST00000565688.5:c.144T>C	ENSP00000456122.1:p.Ser48=
ENST00000565778.5:c.241T>C	ENSP00000458015.1:p.Trp81Arg
ENST00000566057.5:c.224T>C	ENSP00000456693.1:p.Val75Ala
ENST00000566083.5:n.624T>C
ENST00000566824.5:n.442T>C
ENST00000567495.5:c.393T>C	ENSP00000456013.1:p.Ser131=
ENST00000567963.5:c.393T>C	ENSP00000455387.1:p.Ser131=
ENST00000568076.5:n.393T>C
ENST00000568224.4:c.159T>C	ENSP00000454253.1:p.Ser53=
ENST00000568422.5:c.173T>C	ENSP00000455549.1:p.Val58Ala
ENST00000568452.5:n.393T>C
ENST00000568472.5:n.157+1767T>C
ENST00000568497.5:c.222+1767T>C	ENSP00000456414.1:n.222+1767T>C
ENST00000568558.5:c.151T>C	ENSP00000455603.1:p.Trp51Arg
ENST00000569030.5:c.393T>C	ENSP00000454680.1:p.Ser131=
ENST00000569430.5:c.393T>C	ENSP00000454229.1:p.Ser131=
ENST00000628023.2:c.222+1767T>C	ENSP00000486178.1:n.222+1767T>C
ENST00000631023.2:c.393T>C	ENSP00000486616.1:p.Ser131=
NM_000086.2:c.393T>C , LRG_689t1:c.393T>C	NP_000077.1:p.Ser131=
NM_001042432.1:c.393T>C , LRG_689t2:c.393T>C	NP_001035897.1:p.Ser131=
NM_001286104.1:c.321T>C	NP_001273033.1:p.Ser107=
NM_001286105.1:c.93T>C	NP_001273034.1:p.Ser31=
NM_001286109.1:c.159T>C	NP_001273038.1:p.Ser53=
NM_001286110.1:c.231T>C	NP_001273039.1:p.Ser77=
NM_001042432.2:c.393T>C MANE Select	NP_001035897.1:p.Ser131=
NM_001286104.2:c.321T>C	NP_001273033.1:p.Ser107=
NM_001286105.2:c.93T>C	NP_001273034.1:p.Ser31=
NM_001286109.2:c.159T>C	NP_001273038.1:p.Ser53=
NM_001286110.2:c.231T>C	NP_001273039.1:p.Ser77=